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Rare diseases / Syndromes / Congenital disorders / Adrenal gland disorders / Triple-A syndrome / ACTH receptor / AAAS / Glucocorticoid deficiency 1 / Mutation / Biology / Health / Genetics


[removed]/$[removed]Printed in U.S.A. The Journal of Clinical Endocrinology & Metabolism 86(11):5433–5437 Copyright © 2001 by The Endocrine Society
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Document Date: 2008-07-21 09:49:09

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City

Ann Arbor / Piscataway / Austin / Philadelphia / Victoria / Portland / Haifa / Vancouver / Toronto / Bethesda / Washington / Foster City / ACTHR / San Juan PR00907 / /

Company

C.A.S. / Salomon / Varian Inc. / Ge / Kaplan SA / Plotnick LP / /

Continent

North America / /

Country

Puerto Rico / France / United States / Canada / Australia / Israel / /

Currency

USD / /

/

Facility

Carney complex / National Institute of Child Health / Georgetown University / Rambam Medical Center / Children’s Hospital / National Library of Medicine / Johns Hopkins University / /

IndustryTerm

predicted peptide product / /

MedicalCondition

microcephaly / Allgrove Syndrome / dementia / seizures / partial mineralocorticoid deficiency / familial glucocorticoid deficiency / Neurological dysfunction / alacrima-achalasia-adrenal insufficiency-neurological disorder / insufficiencyneurologic disorder / peripheral neuropathy / tremor / spinocerebellar ataxia type / multisystem disorder / disorder / inherited neurological disease / alacrima / peripheral neuropathy / autosomal recessive disorder / paresis / triple-A syndrome / adrenal insufficiency / ataxia / paralysis / mental retardation / disease / hypothyroidism / hereditary glucocorticoid deficiency / Glucocorticoid deficiency / nervous system abnormalities / motor endplate disease / Israel Familial glucocorticoid deficiency / dystonia / mineralocorticoid deficiency / alacrima-achalasia-adrenal insufficiency-neurologic disorder / syndrome / /

NaturalFeature

Ion channel / /

Organization

Rambam Medical Center / National Institute of Health / Center for Medical Genetics / Endocrinology and Diabetes Unit / Endocrine Society / Unit on Genetics and Endocrinology / Department of Pediatrics / Johns Hopkins University / British Columbia’s Children’s Hospital / Children’s Hospital / CONSTANTINE A. STRATAKIS Unit on Genetics and Endocrinology / National Center for Biotechnology Information / Exon / Georgetown University / National Institute of Child Health and Human Development / /

Person

CARLOS J. BOURDONY / Clin Endocrinol / WAI-YEE CHAN / Rodda / LAWRENCE S. KIRSCHNER / DOV TIOSANO / CONSTANTINE FARMAKIDIS / Bachrach / Z. Hochberg / SHAO-MING WU / Hale / Enfants Malades / DANIEL L. METZGER / Ann Med / Constantine A. Stratakis / /

Position

Governor / /

Product

FS / ACTH / Corticotropin / M-9 / cortrosyn / /

ProgrammingLanguage

J / /

ProvinceOrState

Maryland / British Columbia / Michigan / Victoria / /

PublishedMedium

Endocrinology / Molecular Biology / /

Region

Middle East / /

Technology

Genomics / Biotechnology / Cloning / http / Genotype / Recombination / /

URL

www.ncbi.nlm.nih.gov/omim / /

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